Author: Mike Furness

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This week the DNAnexus team is heading to Boston for the annual Bio-IT World Conference & Expo, to be held at the Seaport World Trade Center. We look forward to this meeting every year for its tech-heavy focus on high performance computing, data analysis, and IT management.

This year for the first time, Bio-IT World will include a track on data security, a topic that’s of great importance to us. (As featured in a recent security post from our Chief Cloud Officer, Omar Serang.) Fittingly, many of the talks in this track will focus on keeping genomic data secure in a clinical environment, which represents one of the biggest challenges for our community. DNAnexus proudly provides the ultimate level in genomic data protection in accordance with CLIA, HIPAA, GLP, ISO 27001, and other international regulatory standards, so that users in hospitals, diagnostic labs, and other clinical environments can rest assured their data are safe with us.

Other tracks we’ll keep a close eye on cover cloud computing, tools for data visualization and exploration, and collaborations. We’re eager to share information about the Mercury variant-calling pipeline uploaded by Baylor College of Medicine for the CHARGE project with conference attendees — it’s a great example of a complex workflow of analytical tools that got streamlined and optimized for performance in the cloud.

To learn about that project or to see how DNAnexus can help with your IT infrastructure needs, stop by booth #217 in the exhibit hall. We’d be glad to say hello!

A person with Alport Syndrome might have to look far and wide to find somebody else who can truly understand his symptoms. Just 1 in 50,000 newborns is born with this debilitating genetic disease, which shuts down kidney function and causes hearing and vision loss. Though the syndrome has been understood, at least at a rudimentary level, for decades, it can still take years for affected individuals to get a correct diagnosis.

There are thousands of rare diseases with stories just like Alport Syndrome; while individually they struggle to get widespread attention, today is a day to remember all of them. Since 2008, February 28 has marked Rare Disease Day — a time to recognize people around the world suffering from these hard-to-diagnose, primarily genetic, often incurable diseases. Rare Disease Day is celebrated in countries around the world; more than 70 participated last year, and it is expected that even more will take part in 2014.

Indeed, while so much public and private funding goes toward common diseases such as cancer, it is worth noting that in aggregate, the burden of rare disease is also high: it is likely that hundreds of millions of people around the world have a rare disease. While one rare disease may affect only a handful of patients, others may affect thousands – in the EU alone, as many as 30 million people may be affected by any one of over 6,000 known rare diseases.

Teasing out the genetic basis of these diseases requires exome or whole genome sequencing studies — and while clinics are now using the technology to help severely affected individuals already, where underlying genetic variation is especially complex, some of those studies will need thousands of people to have enough statistical power for finding causal mutations. These efforts could get a much-needed boost as scientists compile high-quality sequence data across thousands of subjects and then share it with other groups for additional data mining, use as healthy controls, and more. The spirit of collaboration that has been so strong in genomics will be of tremendous benefit to the scientists and clinicians seeking to understand and ultimately prevent or cure rare diseases.

Efforts like that of the Global Alliance, which aims to develop technology standards around securely sharing genomic and clinical data, will go a long way toward filling in the puzzle. Here at DNAnexus, we support any endeavor to improve health outcomes for people with rare diseases by streamlining access to genomic data, analytical tools, and computational resources. We hope that our platform will be helpful in moving some of these scientific and clinical efforts forward.

In addition to honoring those people struggling with rare diseases, today we celebrate the scientists, clinicians, and medical geneticists around the world who are working hard to alleviate these conditions. Our best wishes to all of you from everyone here at DNAnexus!

The announcement last month that the National Human Genome Research Institute and National Institute of Child Health and Human Development were awarding $25 million to study genome sequencing for newborns was welcome news to the genomics community — and will serve as a great opportunity to understand the long-term implications of analysis and storage of DNA data.

After all, in addition to the clinical and ethical implications of conducting genome sequencing from birth, there are a host of logistical questions, including how that data will be managed for the 90 or 100 years that many of these newborns will live?

Projects like these offer incredible opportunity to think about lifelong, clinically useful genomic data. We anticipate the need for storage and infrastructure that is far more dynamic than we’re used to today, with our flash drives or hard drives or DVDs. If you consider data gathered just 30 years ago, very few of the media on which that was all stored are even accessible with current technology – anyone remember ZIP drives and floppy disks? Continuing innovations in media not only render older storage technologies obsolete, but all too often they are completely incompatible with each other.

For these new projects that will sequence thousands of individuals from newborns to adults, it’s simply not realistic to expect a team of scientists to manually shift data every few years across several different types of media, to keep these important genome sequences easily accessible. That’s why we think cloud computing will be the best answer for programs like this one. Cloud providers already make it their business to use the latest and greatest technology, and they have entire teams of experts who spend their days making sure data will remain live and readily accessible in the long term.

Cloud computing services can also ensure ongoing clinical compliance and rock-solid security, two critical needs for data sets like these newborn genomes. And it can scale up easily and cost-effectively as demand for newborn genome sequencing soars in the coming years, providing non-redundant, secure, readily-accessible resources.

We look forward to seeing the results of these valuable new studies, and to participating in the discussion as the community thinks about best practices for interpreting and managing data that may need to be maintained for a century or more.

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About DNAnexus

DNAnexus provides a global network for sharing and management of genomic data and tools to accelerate genomic medicine. The DNAnexus cloud-based platform is optimized to address the challenges of security, scalability, and collaboration, for organizations that are pursuing genomic-based approaches to health, in the clinic and in the research lab.

The DNAnexus team is made up of experts in computational biology and cloud computing who work with organizations to tackle some of the most exciting opportunities in human health, making it easier—and in many cases feasible—to work with genomic data. With DNAnexus, organizations can stay a step ahead in leveraging genomics to achieve their goals. The future of human health is in genomics. DNAnexus brings it all together.